CNOT7 (CCR4-NOT Transcription Complex Subunit 7) - Gene Overview
Explore the CNOT7 gene: its function, expression, mutations, and associated diseases. A key regulator of mRNA deadenylation and gene expression.
Gene Information Card
| Symbol | CNOT7 |
|---|---|
| Full Name | CCR4-NOT transcription complex subunit 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p21.3 |
| NCBI Gene ID | 29883 ncbi.nlm.nih.gov/gene/29883 |
| Ensembl ID | ENSG00000104472 |
| UniProt ID | Q9UIV1 |
| OMIM ID | 604913 |
| HGNC ID | 14108 |
| Aliases | CAF1, CAF-1, CCR4-associated factor 1, hCAF1, NOT7 |
Description
CNOT7 encodes the CCR4-NOT transcription complex subunit 7, a catalytic component of the CCR4-NOT deadenylase complex. This protein functions as a 3'-5' poly(A) ribonuclease, playing a critical role in mRNA deadenylation, which is the initial step in mRNA decay and translational regulation. CNOT7 is involved in various cellular processes including gene expression control, cell proliferation, differentiation, and DNA damage response. It interacts with other CCR4-NOT subunits and regulatory proteins to modulate mRNA stability and translation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | CNOT7 expression is altered, potentially affecting mRNA stability of oncogenes or tumor suppressors; CNOT7 may act as a tumor suppressor or oncogene depending on context. | COSMIC: mutations and expression changes observed in colorectal cancer samples; literature evidence from PubMed (not directly cited here). |
| Hepatocellular carcinoma | CNOT7 overexpression may promote cell proliferation and invasion by regulating mRNA stability of key genes. | COSMIC: copy number alterations and expression changes; literature evidence. |
| Breast cancer | CNOT7 expression is associated with tumor progression and poor prognosis; may regulate estrogen receptor signaling. | COSMIC: mutations and expression changes; literature evidence. |
| Gastric cancer | CNOT7 may influence cell cycle and apoptosis via deadenylation of specific mRNAs. | COSMIC: mutations observed; literature evidence. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 20.1 | High |
| Lymph node | 15.3 | Medium |
| Spleen | 12.8 | Medium |
| Bone marrow | 11.5 | Medium |
| Colon | 9.2 | Medium |
| Liver | 8.7 | Medium |
| Brain | 6.4 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 18.5 | Chronic myelogenous leukemia; high expression |
| HeLa | 15.2 | Cervical adenocarcinoma; moderate-high |
| A549 | 12.3 | Lung carcinoma; moderate |
| HepG2 | 10.8 | Hepatocellular carcinoma; moderate |
| MCF7 | 9.5 | Breast adenocarcinoma; moderate |
| T-cell (Jurkat) | 14.1 | Leukemia; moderate-high |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | 0.01% (COSMIC) | Unknown; may affect protein stability or interaction. |
| c.421G>A (p.Ala141Thr) | Missense | 0.02% (COSMIC) | Unknown; potential impact on catalytic activity. |
| c.568A>G (p.Thr190Ala) | Missense | 0.005% (COSMIC) | Unknown; possibly neutral. |
| c.715C>T (p.Arg239Trp) | Missense | 0.01% (COSMIC) | Unknown; may affect deadenylase activity. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in CNOT7 are rare; they may impair deadenylase activity, leading to increased mRNA stability and altered gene expression. Such mutations could contribute to oncogenesis or developmental defects.
Gain of Function (GOF)
Gain-of-function mutations are not well documented; overexpression of CNOT7 is more common in cancer, potentially enhancing mRNA decay of tumor suppressors.
Dominant Negative (DN)
Dominant-negative effects have not been clearly established for CNOT7 mutations; however, mutations that disrupt interaction with other CCR4-NOT subunits could exert dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • 3'-5'-exoribonuclease activity | • poly(A)-specific ribonuclease activity |
| • RNA binding | • protein binding |
| • mRNA deadenylation | • negative regulation of translation |
| • regulation of gene expression | • cell cycle |
| • DNA damage response |
Pathways
• mRNA decay by 3' to 5' exoribonuclease
• CCR4-NOT complex pathway
• Deadenylation-dependent mRNA decay
• Translational regulation by deadenylation
Protein Summary
CNOT7 is a catalytic subunit of the CCR4-NOT deadenylase complex, which shortens the poly(A) tail of mRNAs, initiating mRNA decay and regulating translation. It is widely expressed, with high levels in testis and immune tissues. CNOT7 plays roles in cell proliferation, differentiation, and stress responses. Its dysregulation is linked to several cancers, where it may act as either a tumor suppressor or oncogene depending on cellular context. Mutations are rare but may affect its enzymatic activity or interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CNOT7 Knockout HEK293 Cell Line | EDJ-KQ9066 | Human | 29883 | Details Get a Quote |
| CNOT7 Knockout A-549 Cell Line | EDJ-KQ35537 | Human | 29883 | Details Get a Quote |
| CNOT7 Knockout HCT 116 Cell Line | EDJ-KQ35538 | Human | 29883 | Details Get a Quote |
| CNOT7 Knockout HeLa Cell Line | EDJ-KQ35539 | Human | 29883 | Details Get a Quote |
